Neurodegenerative diseases such as Parkinson’s disease (PD)have increasing incidence, due to lifespan expansion. The association between PD and Myasthenia Gravis (MG) is uncommon, and so far, since 1987, 26 cases have been reported. We report here a series of three new cases, two men and one woman with this peculiar combination of conditions, identified in the Neurology Department of Colentina Clinical Hospital. In this article, the pathogenesis of MG in patients with PD is discussed, along with a literature review regarding the co-occurrence of these two neurological diseases.
Background Hypertrophic cardiomyopathy (HCM) is a genetic disorder mostly caused by sarcomeric gene mutations, but almost 10% of cases are attributed to inherited metabolic and neuromuscular disorders. First described in 2008 in an American-Italian family with scapuloperoneal myopathy, FHL1 gene encodes four-and-a-half LIM domains 1 proteins which are involved in sarcomere formation, assembly and biomechanical stress sensing both in cardiac and skeletal muscle, and its mutations are responsible for a large spectrum of neuromuscular disorders (mostly myopathies) and cardiac disease, represented by HCM, either isolated, or in conjunction with neurologic and skeletal muscle impairment. We thereby report a novel mutation variant in FHL1 structure, associated with HCM and type 6 Emery-Dreifuss muscular dystrophy (EDMD). Case presentation We describe the case of a 40 year old male patient, who was referred to our department for evaluation in the setting of NYHA II heart failure symptoms and was found to have HCM. The elevated muscular enzymes raised the suspicion of a neuromuscular disease. Rigid low spine and wasting of deltoidus, supraspinatus, infraspinatus and calf muscles were described by the neurological examination. Electromyography and muscle biopsy found evidence of chronic myopathy. Diagnosis work-up was completed by next-generation sequencing genetic testing which found a likely pathogenic mutation in the FHL1 gene (c.157-1G > A, hemizygous) involved in the development of X-linked EDMD type 6. Conclusion This case report highlights the importance of multimodality diagnostic approach in a patient with a neuromuscular disorder and associated hypertrophic cardiomyopathy by identifying a novel mutation variant in FHL1 gene. Raising awareness of non-sarcomeric gene mutations which can lead to HCM is fundamental, because of diagnostic and clinical risk stratification challenges.
Table of contentsA1 The outcome of patients with recurrent versus non-recurrent pneumococcal meningitis in a tertiary health-care hospital in BucharestCristian-Mihail Niculae, Eliza Manea, Raluca Jipa, Simona Merisor, Ruxandra Moroti, Serban Benea, Adriana HristeaA2 Influence of bacteriophages on sessile Gram-positive and Gram-negative bacteriaAlina Cristina Neguț, Oana Săndulescu, Anca Streinu-Cercel, Dana Mărculescu, Magdalena Lorena Andrei, Veronica Ilie, Marcela Popa, Coralia Bleotu, Carmen Chifiriuc, Mircea Ioan Popa, Adrian Streinu-CercelA3 The utility of inflammatory biomarkers in the prognostic evaluation of septic patients – past, present and futureAlina Orfanu, Cristina Popescu, Anca Leuștean, Remulus Catană, Anca Negru, Alexandra Badea, Radu Orfanu, Cătălin Tilișcan, Victoria Aramă, Ştefan Sorin AramăA4 Etiologic and clinical features of bacterial meningitis in infantsConstanța-Angelica Vișan, Anca-Cristina Drăgănescu, Anuța Bilașco, Camelia Kouris, Mădălina Merișescu, Magdalena Vasile, Diana-Maria Slavu, Sabina Vintilă, Endis Osman, Alina Oprea, Sabina Sandu, Monica LuminosA5 The diagnostic and prognostic role of neutrophil to lymphocyte count ratio in sepsisAlina Orfanu, Victoria Aramă, Ştefan Sorin Aramă, Anca Leuştean, Remulus Catană, Anca Negru, Gabriel Adrian Popescu, Cristina PopescuA6 Whooping cough in a HIV positive patientRamona Georgiana Stanculete, Ana Vaduva Enoiu, Adelina Raluca Marinescu, Voichita LazureanuA7 Cronobacter sakazakii sepsis in varicella patientAdelina-Raluca Marinescu, Alexandru Crișan, Voichița Lăzureanu, Virgil Musta, Narcisa Nicolescu, Ruxandra LazaA8 Anaerobes an underdiagnosed cause of prosthesis joint infectionAnca-Ruxandra Negru, Daniela-Ioana Munteanu, Raluca Mihăilescu, Remulus Catană, Olga Dorobăț, Alexandru Rafila, Emilia Căpraru, Marius Niculescu, Rodica Marinescu, Olivera Lupescu, Vlad Predescu, Adrian Streinu-Cercel, Victoria Aramă, Daniela TălăpanA9 Streptococcus pneumoniae meningitis presenting with normal CSF – case presentationRamona Ștefania Popescu, Luminița Bradu, Dragoș Florea, Adrian Streinu-CercelA10 Extrapulmonary manifestations of infection with Mycoplasma pneumoniae – study on 24 casesDaniela Anicuta Leca, Elena Bunea, Andra Teodor, Egidia MiftodeA11 The molecular diagnosis of severe bacterial sepsis in pediatric populationMădălina Merișescu, Gheorghiță Jugulete, Adrian Streinu-Cercel, Dragoș Florea, Monica LuminosA12 Acute Staphylococcus aureus endocarditis with multiple septic complications in a patient with diabetes mellitus – case presentationRamona Ștefania Popescu, Anamaria Dobrotă, Adina Ilie, Liliana Lucia PreoțescuA13 Is Streptococcus suis meningitis an under-diagnosed zoonosis?Adriana Hristea, Raluca Jipa, Nicoleta Irimescu, Irina Panait, Eliza Manea, Simona Merisor, Cristian Niculae, Daniela TălăpanA14 Klebsiella pneumoniae isolated from blood. Antimicrobial resistance – past and presentLiana Cătălina Gavriliu, Otilia Elisabeta Benea, Șerban Benea, Alexandru Rafila, Olga Dorobăț, Mona PopoiuA15 Antibiotics resistance in Staphylococcus a...
Atherosclerosis might begin in childhood with the development of fatty streaks. However, the advanced lesions of atherosclerosis, which complicate with ischemic events, are frequent rather in the elderly. We report here a case of early severe and symptomatic atheromatosis of large cervical vessels, in a young patient with some risk factors and strong familial history of vascular disease who was diagnosed with Sezary syndrome.
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